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Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity.

Gregory MD, Mervis CB, Elliott ML, Kippenhan JS, Nash T, B Czarapata J, Prabhakaran R, Roe K, Eisenberg DP, Kohn PD, Berman KF.

Brain. 2019 Dec 1;142(12):3963-3974. doi: 10.1093/brain/awz323.


Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language.

Klein-Tasman BP, van der Fluit F, Mervis CB.

J Autism Dev Disord. 2018 Sep;48(9):3037-3050. doi: 10.1007/s10803-018-3555-4.


A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome.

Gregory MD, Kolachana B, Yao Y, Nash T, Dickinson D, Eisenberg DP, Mervis CB, Berman KF.

BMC Med Genet. 2018 Apr 4;19(1):53. doi: 10.1186/s12881-018-0563-3.


Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.

Klein-Tasman BP, Mervis CB.

J Autism Dev Disord. 2018 Jun;48(6):1982-1994. doi: 10.1007/s10803-017-3439-z.


Outcome Measures for Clinical Trials in Down Syndrome.

Esbensen AJ, Hooper SR, Fidler D, Hartley SL, Edgin J, d'Ardhuy XL, Capone G, Conners FA, Mervis CB, Abbeduto L, Rafii MS, Krinsky-McHale SJ, Urv T; Outcome Measures Working Group.

Am J Intellect Dev Disabil. 2017 May;122(3):247-281. doi: 10.1352/1944-7558-122.3.247.


Behavioral Profiles of Children With Williams Syndrome From Spain and the United States: Cross-Cultural Similarities and Differences.

Pérez-García D, Brun-Gasca C, Pérez-Jurado LA, Mervis CB.

Am J Intellect Dev Disabil. 2017 Mar;122(2):156-172. doi: 10.1352/1944-7558-122.2.156.


Predictors of specific phobia in children with Williams syndrome.

Pitts CH, Klein-Tasman BP, Osborne JW, Mervis CB.

J Intellect Disabil Res. 2016 Oct;60(10):1031-42. doi: 10.1111/jir.12327. Epub 2016 Aug 22.


Infants with Williams syndrome detect statistical regularities in continuous speech.

Cashon CH, Ha OR, Graf Estes K, Saffran JR, Mervis CB.

Cognition. 2016 Sep;154:165-168. doi: 10.1016/j.cognition.2016.05.009. Epub 2016 Jun 11.


Performance on the Kaufman Brief Intelligence Test-2 by Children With Williams Syndrome.

Pitts CH, Mervis CB.

Am J Intellect Dev Disabil. 2016 Jan;121(1):33-47. doi: 10.1352/1944-7558-121.1.33.


7q11.23 Duplication Syndrome.

Mervis CB, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Nov 25.


7q11.23 Duplication syndrome: Physical characteristics and natural history.

Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR.

Am J Med Genet A. 2015 Dec;167A(12):2916-35. doi: 10.1002/ajmg.a.37340. Epub 2015 Sep 3.


Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.

Strong E, Butcher DT, Singhania R, Mervis CB, Morris CA, De Carvalho D, Weksberg R, Osborne LR.

Am J Hum Genet. 2015 Aug 6;97(2):216-27. doi: 10.1016/j.ajhg.2015.05.019. Epub 2015 Jul 9.


Children with Williams syndrome: Developmental trajectories for intellectual abilities, vocabulary abilities, and adaptive behavior.

Mervis CB, Pitts CH.

Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):158-71. doi: 10.1002/ajmg.c.31436. Epub 2015 May 18.


Children with 7q11.23 duplication syndrome: psychological characteristics.

Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR, Woodruff-Borden J, Morris CA, Osborne LR.

Am J Med Genet A. 2015 Jul;167(7):1436-50. doi: 10.1002/ajmg.a.37071. Epub 2015 Apr 21.


Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome.

Wint DP, Butman JA, Masdeu JC, Meyer-Lindenberg A, Mervis CB, Sarpal D, Morris CA, Berman KF.

AJNR Am J Neuroradiol. 2014 Jan;35(1):90-4. doi: 10.3174/ajnr.A3641. Epub 2013 Jul 18.


Toddlers with Williams syndrome process upright but not inverted faces holistically.

Cashon CH, Ha OR, DeNicola CA, Mervis CB.

J Autism Dev Disord. 2013 Nov;43(11):2549-57. doi: 10.1007/s10803-013-1804-0.


The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome.

Thurman AJ, Mervis CB.

J Neurodev Disord. 2013 Feb 13;5(1):2. doi: 10.1186/1866-1955-5-2.


Pragmatic abilities of children with williams syndrome: a longitudinal examination.

John AE, Dobson LA, Thomas LE, Mervis CB.

Front Psychol. 2012 Jun 18;3:199. doi: 10.3389/fpsyg.2012.00199. eCollection 2012.


Duplication of GTF2I results in separation anxiety in mice and humans.

Mervis CB, Dida J, Lam E, Crawford-Zelli NA, Young EJ, Henderson DR, Onay T, Morris CA, Woodruff-Borden J, Yeomans J, Osborne LR.

Am J Hum Genet. 2012 Jun 8;90(6):1064-70. doi: 10.1016/j.ajhg.2012.04.012. Epub 2012 May 10.


Longitudinal assessment of intellectual abilities of children with Williams syndrome: multilevel modeling of performance on the Kaufman Brief Intelligence Test-Second Edition.

Mervis CB, Kistler DJ, John AE, Morris CA.

Am J Intellect Dev Disabil. 2012 Mar;117(2):134-55. doi: 10.1352/1944-7558-117.2.134.


The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function.

Jabbi M, Kippenhan JS, Kohn P, Marenco S, Mervis CB, Morris CA, Meyer-Lindenberg A, Berman KF.

Proc Natl Acad Sci U S A. 2012 Apr 3;109(14):E860-6. doi: 10.1073/pnas.1114774109. Epub 2012 Mar 12.


Factor structure of the Children's Behavior Questionnaire in children with Williams syndrome.

Leyfer O, John AE, Woodruff-Borden J, Mervis CB.

J Autism Dev Disord. 2012 Nov;42(11):2346-53. doi: 10.1007/s10803-012-1482-3.


Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

Pani AM, Hobart HH, Morris CA, Mervis CB, Bray-Ward P, Kimberley KW, Rios CM, Clark RC, Gulbronson MD, Gowans GC, Gregg RG.

PLoS One. 2010 Aug 31;5(8):e12349. doi: 10.1371/journal.pone.0012349.


Comprehension of the communicative intent behind pointing and gazing gestures by young children with Williams syndrome or Down syndrome.

John AE, Mervis CB.

J Speech Lang Hear Res. 2010 Aug;53(4):950-60. doi: 10.1044/1092-4388(2009/08-0234). Epub 2010 Jul 6.


Neuropsychological components of intellectual disability: the contributions of immediate, working, and associative memory.

Edgin JO, Pennington BF, Mervis CB.

J Intellect Disabil Res. 2010 May;54(5):406-17. doi: 10.1111/j.1365-2788.2010.01278.x. Erratum in: J Intellect Disabil Res. 2011 Feb;55(2):252.


Genetic counseling of adults with Williams syndrome: a first study.

Farwig K, Harmon AG, Fontana KM, Mervis CB, Morris CA.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):307-15. doi: 10.1002/ajmg.c.30264.


Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.

Morris CA, Pani AM, Mervis CB, Rios CM, Kistler DJ, Gregg RG.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):299-306. doi: 10.1002/ajmg.c.30265.


Longitudinal course of anxiety in children and adolescents with Williams syndrome.

Woodruff-Borden J, Kistler DJ, Henderson DR, Crawford NA, Mervis CB.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):277-90. doi: 10.1002/ajmg.c.30259.


Sensory modulation impairments in children with Williams syndrome.

John AE, Mervis CB.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):266-76. doi: 10.1002/ajmg.c.30260.


Auditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing.

Marler JA, Sitcovsky JL, Mervis CB, Kistler DJ, Wightman FL.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):249-65. doi: 10.1002/ajmg.c.30262.


Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches.

Mervis CB, John AE.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):229-48. doi: 10.1002/ajmg.c.30263. Review.


Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.

Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):220-8. doi: 10.1002/ajmg.c.30258.


Anxiety disorders in children with williams syndrome, their mothers, and their siblings: implications for the etiology of anxiety disorders.

Leyfer O, Woodruff-Borden J, Mervis CB.

J Neurodev Disord. 2009 Mar;1(1):4-14. doi: 10.1007/s11689-009-9003-1.


Abnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content.

Muñoz KE, Meyer-Lindenberg A, Hariri AR, Mervis CB, Mattay VS, Morris CA, Berman KF.

Neuroimage. 2010 Mar;50(1):340-6. doi: 10.1016/j.neuroimage.2009.11.069. Epub 2009 Dec 11.


Overlap with the autism spectrum in young children with Williams syndrome.

Klein-Tasman BP, Phillips KD, Lord C, Mervis CB, Gallo FJ.

J Dev Behav Pediatr. 2009 Aug;30(4):289-99. doi: 10.1097/DBP.0b013e3181ad1f9a.


Referential communication skills of children with Williams syndrome: understanding when messages are not adequate.

John AE, Rowe ML, Mervis CB.

Am J Intellect Dev Disabil. 2009 Mar;114(2):85-99. doi: 10.1352/2009.114.85-99.


Retinotopically defined primary visual cortex in Williams syndrome.

Olsen RK, Kippenhan JS, Japee S, Kohn P, Mervis CB, Saad ZS, Morris CA, Meyer-Lindenberg A, Berman KF.

Brain. 2009 Mar;132(Pt 3):635-44. doi: 10.1093/brain/awn362. Epub 2009 Mar 2.


Vocabulary abilities of children with Williams syndrome: strengths, weaknesses, and relation to visuospatial construction ability.

Mervis CB, John AE.

J Speech Lang Hear Res. 2008 Aug;51(4):967-82. doi: 10.1044/1092-4388(2008/071).


Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR.

Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19.


The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR.

Am J Med Genet A. 2008 Jul 15;146A(14):1797-806. doi: 10.1002/ajmg.a.32360.


A genetic model for understanding higher order visual processing: functional interactions of the ventral visual stream in Williams syndrome.

Sarpal D, Buchsbaum BR, Kohn PD, Kippenhan JS, Mervis CB, Morris CA, Meyer-Lindenberg A, Berman KF.

Cereb Cortex. 2008 Oct;18(10):2402-9. doi: 10.1093/cercor/bhn004. Epub 2008 Feb 27.


Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome.

Marenco S, Siuta MA, Kippenhan JS, Grodofsky S, Chang WL, Kohn P, Mervis CB, Morris CA, Weinberger DR, Meyer-Lindenberg A, Pierpaoli C, Berman KF.

Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15117-22. Epub 2007 Sep 7.


Socio-communicative deficits in young children with Williams syndrome: performance on the Autism Diagnostic Observation Schedule.

Klein-Tasman BP, Mervis CB, Lord C, Phillips KD.

Child Neuropsychol. 2007 Sep;13(5):444-67.


Language and communicative development in Williams syndrome.

Mervis CB, Becerra AM.

Ment Retard Dev Disabil Res Rev. 2007;13(1):3-15. Review.


Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome.

Leyfer OT, Woodruff-Borden J, Klein-Tasman BP, Fricke JS, Mervis CB.

Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):615-22.

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